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Cortical Dysplasia, Complex, with Other Brain Malformations 13 (CDCBM13)
Alias:
Cdcbm13
|
Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects, Formerly
|
Intellectual Developmental Disorder, Autosomal Dominant 13, Formerly
|
Complex Cortical Dysplasia with Other Brain Malformations 13
|
Intellectual Developmental Disorder, Autosomal Dominant 13
|
Mental Retardation, Autosomal Dominant 13, Formerly
|
Intellectual Disability, Autosomal Dominant 13
|
Mrd13, Formerly
|
Mrd13
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development. Brain imaging reveals variable neuronal migration defects leading to cortical malformations, including pachygyria. Additional features may include early-onset seizures, dysmorphic features, and signs of peripheral neuropathy like abnormal gait, hyporeflexia, and foot deformities. CDCBM13 is associated with a heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AD Autosomal dominant | Unknown | -- | 560 | 3842 | 14 |
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed